Canonical Allele Identifier: CA359188623

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13692163T>G (hg19) ; chr5:g.13692054T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692054T>G , CM000667.2:g.13692054T>G	GRCh38
NC_000005.9:g.13692163T>G , CM000667.1:g.13692163T>G	GRCh37
NC_000005.8:g.13745163T>G	NCBI36
NG_013081.1:g.257427A>C
NG_013081.2:g.257427A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1138A>C
ENST00000265104.5:c.13805A>C MANE Select	ENSP00000265104.4:p.Asp4602Ala
ENST00000681290.1:c.13760A>C	ENSP00000505288.1:p.Asp4587Ala
ENST00000265104.4:c.13805A>C	ENSP00000265104.4:p.Asp4602Ala
NM_001369.2:c.13805A>C	NP_001360.1:p.Asp4602Ala
XM_005248262.2:c.13760A>C	XP_005248319.1:p.Asp4587Ala
XM_005248262.3:c.13913A>C	XP_005248319.2:p.Asp4638Ala
XM_017009177.1:c.13493A>C	XP_016864666.1:p.Asp4498Ala
XM_017009178.1:c.12818A>C	XP_016864667.1:p.Asp4273Ala
XM_017009179.2:c.12818A>C	XP_016864668.1:p.Asp4273Ala
XM_017009185.1:c.9002A>C	XP_016864674.1:p.Asp3001Ala
XM_017009186.1:c.8555A>C	XP_016864675.1:p.Asp2852Ala
XM_017009188.1:c.7892A>C	XP_016864677.1:p.Asp2631Ala
XM_024454388.1:c.12818A>C	XP_024310156.1:p.Asp4273Ala
XM_024454389.1:c.12407A>C	XP_024310157.1:p.Asp4136Ala
NM_001369.3:c.13805A>C MANE Select	NP_001360.1:p.Asp4602Ala